By Kelly Happe

Reproductive cancer is a significant public health issue. According to the American Cancer Society, in 2004, 216,000 women were diagnosed with breast cancer, over 40,000 of whom were expected to die from the disease. That same year, approximately 26,000 were diagnosed with ovarian cancer and 16,000 did not survive.[1] Breast cancer is the second most common cancer diagnosed in women and is the second leading cause of their death. Ovarian cancer causes more deaths than any other cancer of the female reproductive system.[2]

Genomics promises to improve the prevention, detection, and treatment of these diseases. BRCA1, first cloned in 1994, and BRCA2, cloned the year after, are thought to increase risk for breast and ovarian cancer in the small percentage of women who inherit mutations of these genes. Researchers are also pursuing the study of more common genetic variations that do not increase risk as much as BRCA mutations do, but affect a larger proportion of the population.

As genetic information becomes more complex and readily available, we must reflect on how it will impact medicine and public health. We must critically assess claims that genomics is "improving" health care and look instead at the conceptual transformations necessary for genomics to be integrated into routine medicine and public health policy. This entails a close examination of the language of genomics, as science studies scholars in the fields of rhetoric, philosophy, and history have shown that scientific change necessarily involves intentional and unintentional shifts in the ways scientists talk about their objects of study. Geneticists themselves have recognized the importance of language, especially when changes are considered "revolutionary" in scope. It has been argued, for example, that genomics will enable researchers to "reclassify all human illnesses on the basis of detailed molecular characterization" and introduce a "new molecular taxonomy of illness."[3]

What does it mean, however, to "reclassify" disease? And what happens when we do? These are important questions when considering the impact of genomics on women's health, especially when we consider the ways in which genomics research is grounded in assumptions about gender, race, and environmental risk. BRCA research, for instance, has greatly influenced prevention and treatment options for women that impact reproductive choice. Moreover, the appearance and frequency of BRCA mutations have been linked to a woman's non-familial genetic lineage, leading geneticists to believe that ethnicity and race are markers for probable inherited susceptibility and can explain why young African American women face higher risks for breast cancer. Reproductive cancer researchers are also exploring aspects of gene-environment interactions, thus contributing to the rationale for genetic testing in the name of public health and environmental risk management. 

BRCA Mutations and Ovarian Cancer: Gendered Discourses of Risk

There have been several large studies of ovarian cancer demonstrating that mutations of BRCA1 and BRCA2 can elevate a woman's lifetime risk for ovarian cancer.[4,5] Women with BRCA mutations face a 10 to 60% chance of getting ovarian cancer, while the lifetime risk for women in the general population is 1.8%.[6]

Of all the gynecologic cancers, ovarian cancer carries the highest death rate, due largely to the fact that the majority of ovarian cancers are diagnosed at a late stage, at which point the chances for reversing the cancer are low. Because of the high death rate associated with ovarian cancer, oophorectomy - or removal of the ovaries - has been recommended for women with BRCA mutations, and two 2002 studies demonstrating its efficacy in reducing risk are now widely cited as evidence that this recommendation is a sound one.[7,8]

However, as some researchers have noted, the risk of peritoneal cancer is nevertheless still significant for those who have BRCA1 mutations.[9] Moreover, as the case of prophylactic mastectomy shows, the risk of cancer after surgery is very much dependent on the quality of surgical care that a woman receives. And for many women, risk of cancer after oophorectomy may be just one concern among many. Oophorectomy has resulted in a substantial increase in coronary heart disease for postmenopausal women, a risk not seen in women undergoing natural menopause.[10] In addition, hormone replacement therapy (HRT) is controversial for women with BRCA mutations, and if they opt for estrogen-only HRT in order to help reduce any increase in the risk for breast cancer, they increase their risk for uterine cancer. Interestingly, decision models demonstrate only a modest extension of life expectancy (approximately 4.6 years for a hypothetical 30-year old woman) from prophylactic oophorectomy combined with chemoprevention, such as Tamoxifen.[11] Other models are even more conservative (0.3 to 1.7 years for a 30-year old woman after oophorectomy).[12] Despite the limitations of prophylactic oophorectomy, evidence suggests an emerging consensus regarding its usefulness as standard treatment for women at risk.[13,14] In one journal editorial, researchers suggested that the question for women at risk is no longer "whether" to have the procedure but "when."[15]

To some extent, the recent attention to oophorectomy is merely an extension of earlier medical discourse regarding care for women at risk for familial cancer. The newfound confidence over oophorectomy, however, reflects more than the enthusiasm around recent research suggesting its medical benefit. Rather, the discourse around oophorectomy reflects the impact of BRCA genetic screens on the way in which researchers and clinicians understand risk and disease. The treatment recommendations for healthy women at risk for ovarian cancer because of the presence of a BRCA mutation - oophorectomy, hysterectomy (removal of the uterus), hormone-replacement therapy, and chemoprevention - suggest that, in this manner of thinking, a genetic mutation functions as a shorthand for disease; one could say that genotype has replaced phenotype as the operative term in cancer risk assessment and management. These are rhetorical transformations that are possible because of the implicit importance in our culture attributed to heredity. For women encouraged to undergo extreme measures like prophylactic oophorectomy and hysterectomy (and in some cases, mastectomy as well), these recommendations signify an underlying belief that their fate really is in their genes. In many cases, these healthy women are undergoing more drastic and aggressive treatment than women with cancer, suggesting that heredity is sometimes even more significant than disease itself.

The facile reclassification of ovaries from "at-risk" to "diseased" is possible in part because of the legacy of gender bias in biomedicine. This legacy includes, among other things, the centrality of working reproductive organs to a woman's emotional and physical wellbeing. For turn-of-the-century physicians, for instance, a woman's uterus and ovaries - as though existing exclusively for the propagation of the species - could in turn be the source of a range of illnesses if a woman did not procreate.[16] In medical discourse at the time, a woman's reproductive system played no role in maintaining her own health. It was the engine of procreation or illness, nothing else.

One of the manifestations of this ideology has been the routine, cavalier removal of women's reproductive organs in the name of disease prevention. For example, the Halsted radical mastectomy, a highly disfiguring procedure involving removal of breasts, lymph nodes, and chest wall muscles, was popular among cancer surgeons well after research showed that less invasive alternatives were equally effective for saving women's lives.[17]

Paradoxically, then, the "new" genetics forces women to confront some very old problems. Recommendations for oophorectomy often assume, albeit implicitly, that removing organs is a sound way of treating cancer and that heroic medical interventions (mainly surgery) also serve as de facto technologies of detection, since oophorectomy allows doctors to detect early stage cancer in ways that other surveillance measures cannot. The logic of this treatment calculus is questionable, however; removing an at-risk organ by no means serves to eliminate the chances that a woman will get cancer. And to claim that surgery is the best way to detect cancer early merely begs the question as to why better, non-intrusive surveillance technologies are not available to women at risk for this disease.

How is it then, that oophorectomy - and to some degree, hysterectomy - are recommended for healthy women so routinely and enthusiastically by cancer researchers? The explanation resides, in part, by the mental conflation of ovaries with their reproductive function. In the reigning ideology of ovarian cancer research and treatment, ovaries provide women with the ability to procreate; for women who no longer need or want ovaries for this purpose, the ovaries become disposable. Although researchers do recognize the many health benefits of intact ovaries, the discourse about women at risk for BRCA-related cancer significantly waters down these benefits, nearly to the point of rendering them irrelevant to any treatment decision calculus. The short- and long-term "side effects" of oophorectomy often recede, rhetorically, in a discourse in which the purpose is the reduction of cancer risk, seemingly at all costs.

There is, however, one prominent exception: the decision to postpone oophorectomy in order to conceive. In studies about oophorectomy, researchers routinely mention childbearing as a decisive caveat when timing the operation: women at risk should consider oophorectomy by age 35 or when childbearing is complete, whichever comes first. Thus, even though the women at the center of this risk analysis are highly likely to get ovarian cancer, and physicians are unlikely to detect it in time, according to the medical community it is understandable that they postpone a life-saving procedure in order to fulfill procreative desires. In this kind of reasoning, the risk for ovarian cancer effectively becomes less a concern for fertile women, suggesting that talk about the risk and danger of ovarian cancer entails strategic and arbitrary rhetorical choices on the part of cancer researchers.
Ovarian cancer research essentially enables experts to (implicitly) reward women for becoming mothers; more specifically, this research allows experts to reward women who forego the pursuit of other interests, desires, and needs in order to become young mothers. For women with BRCA mutations, reproductive choice is both a cause of cancer risk and one of its most significant casualties.

Racialized Risk: African American Women and Inherited Susceptibility to Breast Cancer

Since 1998, the "Annual Report to the Nation On Cancer" - a collaboration of the National Cancer Institute, the Centers for Disease Control and Prevention, the American Cancer Society, and the North American Association of Central Cancer Registries - has documented the undue burden of breast cancer for women of color. In 1998, deaths from breast cancer were 28% higher for black women than for white women.18 In fact, African American women have the highest mortality rate of any other racial or ethnic group in the United States.[19] Moreover, although overall rates for breast cancer are lower than for whites, rates of breast cancer among young black women are higher and have been so for some time. As epidemiologist Nancy Krieger has observed, "[c]ombine relatively high incidence and relatively high mortality, and the net result is that US Black women have among the highest breast cancer mortality rates in the world." [20]
Differential rates of breast cancer incidence and mortality have left researchers scrambling for an explanation. As early as 1996, researchers suggested that breast cancer in black women is largely a different disease than in other women.[21]

Evidence of this included statistics showing that black women tend to be diagnosed at an earlier age, at a more advanced stage of the disease, and with types of tumors that are difficult to treat (for example, tumors that are poorly differentiated and difficult to prevent from spreading or are estrogen-receptor negative and thus resistant to drugs like tamoxifen). As this was around the same time of the identification of the BRCA1 and BRCA2 genes, researchers began testing African American women for mutations of these genes, and genetic screens revealed a number of mutations never seen before in studies comprised entirely of white subjects.[22-26] For geneticists, the "unique" spectrum of BRCA mutations suggests, paradoxically, that African American women are themselves genetically diverse, yet simultaneously biologically distinct from other racial and ethnic groups.

Founder mutations* of the BRCA genes provide additional evidence for researchers that genes may explain health disparities. The identification of these "ancient" mutations in black women suggests that a different sort of heredity is at work - that of population, and not extended family. Thus, a founder mutation can be detected in two individuals who are geographically or culturally isolated.[27] The 943ins10 mutation of BRCA1, for example, has been detected in women living in the US, the Bahamas, and the Ivory Coast.[28] Geneticists have also observed that BRCA breast cancers are biologically similar to breast cancer observed in young black women - age at diagnosis tends to be early, and the diagnosis is of aggressive, hard to treat tumors. These similarities "suggest that BRCA1 mutations may contribute to breast cancer in a significant proportion of African American women" although researchers allow that at the moment "limited data are available from this population to evaluate this possibility."[29] Nevertheless, the connection between BRCA mutation and cancer in young black women has fueled interest in the hypothesis that underlying biological processes are at work.

Researchers are also suggesting that common variations of genes, called polymorphisms, may serve as risk factors for disease in African American women. These genetic variations are not thought to confer the same amount of risk as the BRCA genes, but nevertheless modify the impact of environmental risk factors. Of significance, for example, are polymorphisms of genes that may impact metabolism of estrogen and environmental contaminants.[30,31] The biological difference theory is further grounded in the argument by researchers that social variables cannot explain observed health disparities. So, for example, when black women have the same access to health care and are diagnosed at the same stage of breast cancer, they are still more likely to die from the disease in part because they are diagnosed with histologically distinct tumors. So, the fact that African American women "maintain a survival deficit compared to white women, even after controlling for state of disease at diagnosis and other factors associated with socioeconomic status such as treatment and obesity, suggests the possibility of biological differences associated with race."[32]

And finally, geneticists point to the fact that women in west African nations are at low risk for breast cancer, although when adjusted for age, rates are higher for young women. This, according to some researchers suggests that "[i]t is likely that the shared genetic background of Africans and U.S. African Americans contributes to the greater susceptibility to early-onset breast cancer in both groups but this has not been evaluated carefully."[33]

The arguments for a gene-inflected interpretation of breast cancer statistics betray, upon closer examination, that the race concept has remained operative in genetics research. Although these researchers acknowledge the very real fact of genetic admixture, they nevertheless consider African ancestry to be the only relevant variable in assessing breast cancer risk.[34] African ancestry stands in as a proxy for complex and diverse heredity, and it does so at the expense of more scientifically productive representations of populations. Indeed, race is a poor marker of genetic lineage as "by some estimates more than three quarters of Americans who identify themselves as black or African American have a blood relative who identifies themselves as white or Caucasian.[35] Yet the literature on founder mutations often ignores the very real possibility that BRCA mutations detected in black women - even the "African" founder mutation 943ins10 - could be detected in "white" women. This has, in fact, occurred. Researchers tend to overlook these anomalies and routinely refer to "unique" mutations never previously reported as evidence that African American women are biologically unique and thus presumably members of a race. Although novel mutations are nothing unusual in white subjects (many of the reported mutations of BRCA1 and BRCA2 appear in just one family), researchers never talk about white women as biologically distinct from other races for which genetic mutations can explain why their rates of incidence are higher, their mortality rates lower, and the common types of tumors histologically distinct. The de facto - and correct -assumption is that white women are not a race, but a biologically diverse population with multiple ancestral lines which all play a role in breast cancer risk.

Breast cancer researchers have turned their attention to patterns of disease incidence in African nations in an attempt to map out biological evidence of the African ancestry in American black women (rates are higher in the studies conducted thus far). But again, this begs the question: why not look at statistics in Europe to explain breast cancer rates among black women in the US? Why just Africa? Not only does this reify the presumed African ancestry of black women, it subsumes all risk factors under the rubric of race, belying the fact that risk of breast cancer in the United States is multifactoral and represents the intersection of many sociocultural factors. Moreover, by invoking research on African breast cancer patients, researchers confuse patterns of disease rates with crude rates.

Inferring patterns from the data may be statistically interesting, but patterns belie historical trends that challenge the heredity argument. Between 1973 and 1990 incidence of breast cancer in black women under 50 increased by over 16%, while for white women in this same age group, it increased by 6%.36 Between 1969 and 1997, the age-adjusted death rate for white women dropped 15% while it increased by 22% for African American women.[37]

Moreover, rates of breast cancer are, overall, considerably higher in the US for all age groups than they are in other countries, suggesting that environmental triggers are a critical component of breast cancer etiology.

Advocates of the genetic argument claim that social variables cannot explain observed differences in health disparities since studies show that when these social variables are controlled for (e.g. race and class), black women are more often diagnosed with different types of breast cancer. But perhaps these researchers are too easily discounting other possible reasons for the impact of race and class on cancer incidence and mortality.

It is quite difficult to control for all socio-cultural factors that can contribute to disease risk, and even when researchers are reasonably confident that they have, class and race operate as confounding variables in ways that they sometimes ignore or simply do not understand.[38]

As a result, some critics have called for geneticists to stop using the term "race" altogether and to refrain from any suggestion that advances in genomics can improve the health of minority groups.[39] It is a suggestion worth taking seriously not only in the interest of advancing health disparities research, but also in raising public awareness of issues of poverty, discrimination, and the dismantling of our public health infrastructure. Genomics represents race in a way that reshapes our perception of the lived experience of African American women and shifts the burden of proof in explaining disease to geneticists, not policy-makers - a shift that impacts not just women of color but all women at risk for breast cancer.


Genomics represents race in a way that reshapes our perception of the lived experience of African American women, as well as shifting the burden of proof in explaining the patterns of disease to geneticists, not policy-makers. This is a shift that impacts not just women of color, but all women at risk for breast cancer. Since high-penetrant mutations of genes such as BRCA1 and BRCA2 explain only 5 to 10 percent of all breast cancer cases, researchers have devoted more and more resources to understanding the role of low penetrant, yet much more common alleles, such as polymorphisms of repair genes. This research, it is argued, is significant in that it can serve broader public health goals by rationalizing environmental risk assessment in such a way that policy-makers and regulators can protect those individuals "truly" susceptible to the harmful effects of environmental pollution. In several studies of repair genes, however, significant numbers of controls tested positive for mutations, suggesting that it will be very difficult to clearly define at-risk populations.[40] Thus, not only is the public health benefit of the genomic approach scientifically suspect, we risk offering policy-makers and regulators additional justification for further redirecting what little resources are currently devoted to improving the health of all women to research about a small number of genetic muations.

Kelly Happe is an assistant professor of rhetorical studies in the Communication Department at Northern Illinois University. She is completing a book-length project that will explore the rhetoric of risk and disease in contemporary cancer genomics research, specifically as it relates to women and reproductive cancer.

*Founder mutations are gene mutations present in a population at increased frequency because they were present in a small isolated group of ancestors who gave rise to most of the individuals in the present day population.



1. American Cancer Society. 2005. Cancer Statistics 2005 (power point presentation). Available from
2. Centers for Disease Control and Prevention. 2005. Cancer Prevention and Control Fact Sheets. Available from
3. Collins, Francis S., Eric D. Green, Alan E. Guttmacher, and Mark S. Guyer. 2003. A vision for the future of genomics research: A blueprint for the genomic era. Nature, 422(April 24): 7.
4. Risch, Harvey A. et al. 2001. Prevalence and Penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. American Journal of Human Genetics 68: 700-710.
5. Olopade, Olufunmilayo and Grazia Artioli. 2004. Efficacy of risk-reducing salpingo-oophorectomy in women with BRCA-1 and BRCA-2 mutations. The Breast Journal 10(1): 5.
6. King, Mary-Claire et al. 2003. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302(October 24): 643-646.
7. Kauff, Noah D. et al. 2002. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. The New England Journal of Medicine 246(21): 1609.
8. Rebbeck, Timothy R. et al. 2002. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. The New England Journal of Medicine 346(21): 1616.
9. Liede, Alexander et al. 2002. Cancer incidence in a population of Jewish women at risk of ovarian cancer. Journal of Clinical Oncology 20(6): 1570-1577.
10. Colditz, Graham A. et al. 1987. Menopause and the risk of coronary heart disease in women. The New England Journal of Medicine 316(18): 1105-1110.
11. Grann, Victor R. et al. 2002. Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA 1/2 mutations: an updated decision analysis. Journal of Clinical Oncology 20(10): 2520-2529.
12. Schrag, Deborah et al. 1997. Decision analysis-effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 and BRCA2 mutations. The New England Journal of Medicine 336(20): 1465.
13. Rosen, Barry et al. 2004. Systematic review of management options for women with a hereditary predisposition to ovarian cancer. Gynecologic Oncology 93: 285.
14. Levine, Douglas et al. 2003. Fallopian tube and primary peritoneal carcinoma associated with BRCA mutations. Journal of Clinical Oncology 21(22): 4222-4227.
15. Garber, Judy Ellen and Anne-Renee Hartman. 2004. Prophylactic oophorectomy and hormone replacement therapy: protection at what price? Journal of Clinical Oncology 22(6): 978-980.
16. Ehrenreich, Barbara and Deirdre English. 1978. For Her Own Good: 150 Years of the Experts' Advice to Women. New York: Doubleday.
17. Lerner, Barron H. 2001. The Breast Cancer Wars: Hope, Fear, and the Pursuit of a Cure in Twentieth-Century America. New York: Oxford University Press.
18. Jones, Lovell A. and Janice A. Chilton. 2002. Impact of breast cancer on African American women: priority areas for research in the next decade. American Journal of Public Health 92(4): 540
19. Clarke, Christina A., Dee W. West, Brenda K. Edwards, et al. 2003. Existing data on breast cancer in African-American women: what we know and what we need to know. Cancer [Suppl] 97(1): 211
20. Krieger, Nancy. 2002. Is breast cancer a disease of affluence, poverty, or both? The case of African American women. American Journal of Public Health 92(4): 612.
21. Trock, Bruce J. 1996. Breast cancer in African American women: epidemiology and tumor biology. Breast Cancer Research and Treatment 40: 11-24.
22. Gao, Qing, Gail Tomlinson, Soma Das, et al. 2000. Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer. Human Genetics 107 (August): 186-191.
23. Mefford HC., L. Baumbach, RC Panguluri, et al. 1999. Evidence for a BRCA1 founder mutation in families of West African Ancestry. American Journal of Human Genetics 65: 575-578.
24. Panguluri, Ramesh C.K., Lawrence C. Brody, Rama Modali, Kim Utley, Lucile Adams-Campbell, Agnes A. Day, Carolyn Whitfield-Broome, and Georgia M. Dunston. 1999. BRCA1 mutations in African Americans. Human Genetics 105: 28-31.
25. Pal, Tuya, Jenny Permuth-Wey, Tricia Holtje, and Rebecca Sutphen. 2004. BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. Cancer Epidemiology, Biomarkers & Prevention 13(11): 1794-1799.
26. Olopade, Olufunmilayo I., James D. Fackenthal, Georgia Dunston, et al. 2003. Breast cancer genetics in African Americans. Cancer [Suppl] 97(1): 236-245.
27. Pal, Tuya, Jenny Permuth-Wey, Tricia Holtje, and Rebecca Sutphen. 2004. BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. Cancer Epidemiology, Biomarkers & Prevention 13(11): 1797
28. Mefford HC., L. Baumbach, RC Panguluri, et al. 1999. Evidence for a BRCA1 founder mutation in families of West African Ancestry. American Journal of Human Genetics 65: 575-578.
29. Olopade, Olufunmilayo I., James D. Fackenthal, Georgia Dunston, et al. 2003. Breast cancer genetics in African Americans. Cancer [Suppl] 97(1): 237
30. Guillemette, Chantal, Robert C. Millikan, Beth Newman, and David E. Housman. 2000. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and association with breast cancer among African Americans. Cancer Research 60:950-956.
31. Ibid
32. Trock, Bruce J. 1996. Breast cancer in African American women: epidemiology and tumor biology. Breast Cancer Research and Treatment 40: 18
33. Olopade, Olufunmilayo I., James D. Fackenthal, Georgia Dunston, et al. 2003. Breast cancer genetics in African Americans. Cancer [Suppl] 97(1): 241.
34. Ibid, 242
35. Brawley, Otis. W. 2003. Population categorization and cancer statistics. Cancer and Metastasis Reviews 22: 14
36. Trock, Bruce J. 1996. Breast cancer in African American women: epidemiology and tumor biology. Breast Cancer Research and Treatment 40: 12
37. Clarke, Christina A., Dee W. West, Brenda K. Edwards, et al. 2003. Existing data on breast cancer in African-American women: what we know and what we need to know. Cancer [Suppl] 97(1): 211.
38. Brawley, Otis. W. 2003. Population categorization and cancer statistics. Cancer and Metastasis Reviews 22: 11-19.
39. Stevens, Jacqueline. "Racial Meaning and Scientific Methods: Changing Policies for NIH-Sponsored Publications Reporting Human Variation. Journal of Health Politics, Policy and Law 28 (2003): 1033-87.
40. Hu, Jennifer J., Tasha R. Smith, Mark Steven Miller, Kurt Lohman, and L. Douglas Case. 2002. Genetic regulation of ionizing radiation sensitivity and breast cancer risk. Environmental and Molecular Mutagenesis. 39: 208-215.

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